Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Dear all, Thanks everyone for the prompt reponse's. I think I will have to go back and ask some more questions of our doctors. I have probably been a bit naive in that I thought some of his problems were due to clumsiness or lack of wanting to do something. I feel really bad if there has been an underlying problem with his eye or ears that has led to making things more difficult. But I will have to get over that and just go back to the DR's and get all the answers we need. I live in Darmstadt (just south of furt) in Germany. We only had ST, OT and cognitive appraisals done in England as Luke only speaks English. All other DR's appointments are done here in Germany so that our insurance will actually pay for them. Is there anyone on the list that lives in Germany and have experience of Dr's here?? I will ask our eye doctor about the colomba. I thought he would have been able to see this with a normal eye exam but from the sounds of some of your replies this might not be the case. If the Colomba is at the back of the eye what would the effects be? Would I be able to tell from his movement or motor skills? As for his nose, I think we will have to get this checked. When he has a cold there is always one nostril that runs. I think he has poor clearance in the other nostril. He can breath through this nostril but it my have a stenosis there. He snores and breathes through his mouth at night-time. The geneticist remarked that he had some of the Charge features - ears stick out and his eyes are a bit wider set than normal. And one of the eyelids on one eye doesn't fully retract. I'll try and upload a picture so you take a look at my beautiful boy. We haven't seen an urologist yet. I just thought it was a behaviour issue - in that he didn't want to take the time to out to go to the toilet. With regards at nighttime, he goes to the toilet direct before he gets into bed and it doesn't seem to make a difference what he drank or how much before bedtime. He sleeps so deeply that he never wakes up to go to the toilet or even if he wets himself. We only find out in the morning. I guess I have a few more appointments to make. Thanks Louise Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Hi to you all, Some background - My son, Luke, was born in June 2000. He was born with several problems which meant a 2.5 month stay in hospital. He had a few operations during this time - heart, oesphagus and intestines. As he got older we were told that his low muscle tone and the fact that he was meeting non of his milestones was due to his initial problems at birth. He didn't walk on his own until 27 months. He was diagnosed with developmental and speech delays and were given OT and ST. But I have always thought that something else was behind all this. Since attending Kindergarten we have noticed more challenging behaviour and he has difficulty staying in one place to actually do any learning. This summer we decided enough was enough and we have paid to have formal testing done. We are English couple who are living in Germany. Due to his learning difficulties it has been impossible to teach him German. Our pedeatrician is good but has always said wait and see and he will catch up. Any formal testing here in Germany would have to be done in German and so is pointless. We travelled back to England and saw Dr Benton (neurologist) at Great Ormond Street. We have also had testing done by OT, ST and an Educational psychologist. They have all been very helpful and given us loads of information to read and to help in preschool. We were also directed to a geneticist. It is he who has suggested that Luke has Charge Syndrome and he has sent away bloodwork for official diagnosis. I had orginally ruled this out myself as he can see and hear. Is there anyone on this list who's children are also like this? We have had an eye test done recently but Luke was not really willing to participate and so we may have to do a test under anasthestic. Has anyone else had to do this? We have had a BERA test done and he can hear but is not willing to participate in " normal " hearing tests. I am glad that I found such a site and that are so many parents willing to help each other. My main concerns at the moment are his schooling and his toileting. He is attending a private international school - as this is the only place that speaks ENglish as a main lanaguage. I therefore have to coordinate and provide a lot of material for the teachers so that they can help him. He has a " helper " in the classroom provided by a charity but is not special needs trained. He has been toilet trained for a while now but still has accidents. He just seems not to realise when he needs to go. He also wets the bed everu night UNLESS my husband takes him to the toilet at around midnight. If we don't prompt to go to the toilet he would't go by himself. On the positive side he has learnt to do the toilet routine on his own - after prompted to go. Does any one have any ideas why my son is like this? Any ideas how to help him be more independent?? Sorry this is long but I have so many questions - that have not been answered successfully by his Dr's here in Germany. Thanks Louise (Mum to Luke (6yrs) and Jack (7months)) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 hi and wel come to our charge fam from what you describe he has charge many chargers dotn have al the criteria if you look at the diagnosis thing it well im not an expert just a charger who reads but my understanding and belief is charge is just so diverse and comples no two people will have the same issues i think one has to have three of the major and two of the minor to be a charger so i think you qualify with the heart and oesophigus as you may no witht he blood work the new jene has been disovered but if thats egiative doenst mean he wouldnt have it ihave you looked at other hidden stuff liek growth hormones and such i have bilatral colibomas cleft lip plaate reflux gtube hearing probs and many other stuff and i have no growth hormones and stuff the charge manual is online at www.chargesyndrome.orghugs ellen in aus > > Hi to you all, > > Some background - > My son, Luke, was born in June 2000. He was born with several > problems which meant a 2.5 month stay in hospital. He had a few > operations during this time - heart, oesphagus and intestines. As he > got older we were told that his low muscle tone and the fact that he > was meeting non of his milestones was due to his initial problems at > birth. He didn't walk on his own until 27 months. He was diagnosed > with developmental and speech delays and were given OT and ST. But I > have always thought that something else was behind all this. Since > attending Kindergarten we have noticed more challenging behaviour and > he has difficulty staying in one place to actually do any learning. > > This summer we decided enough was enough and we have paid to have > formal testing done. We are English couple who are living in Germany. > Due to his learning difficulties it has been impossible to teach him > German. Our pedeatrician is good but has always said wait and see and > he will catch up. Any formal testing here in Germany would have to be > done in German and so is pointless. We travelled back to England and > saw Dr Benton (neurologist) at Great Ormond Street. We have also had > testing done by OT, ST and an Educational psychologist. They have all > been very helpful and given us loads of information to read and to > help in preschool. We were also directed to a geneticist. It is he > who has suggested that Luke has Charge Syndrome and he has sent away > bloodwork for official diagnosis. I had orginally ruled this out > myself as he can see and hear. Is there anyone on this list who's > children are also like this? > > We have had an eye test done recently but Luke was not really willing > to participate and so we may have to do a test under anasthestic. Has > anyone else had to do this? We have had a BERA test done and he can > hear but is not willing to participate in " normal " hearing tests. > > I am glad that I found such a site and that are so many parents > willing to help each other. My main concerns at the moment are his > schooling and his toileting. > > He is attending a private international school - as this is the only > place that speaks ENglish as a main lanaguage. I therefore have to > coordinate and provide a lot of material for the teachers so that > they can help him. He has a " helper " in the classroom provided by a > charity but is not special needs trained. > > He has been toilet trained for a while now but still has accidents. > He just seems not to realise when he needs to go. He also wets the > bed everu night UNLESS my husband takes him to the toilet at around > midnight. If we don't prompt to go to the toilet he would't go by > himself. On the positive side he has learnt to do the toilet routine > on his own - after prompted to go. Does any one have any ideas why my > son is like this? Any ideas how to help him be more independent?? > > Sorry this is long but I have so many questions - that have not been > answered successfully by his Dr's here in Germany. > > Thanks > > Louise (Mum to Luke (6yrs) and Jack (7months)) > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Hello and welcome Louise and family, My name is and I have a 10 year old son with CHARGE as well as three other medically unremarkable children. We currently live in Virginia. Whereabout in Germany are you? I went to university there for a few years and my sister also lives there right now, near Ramstein. also had to be sedated for many tests up until just recently. He was either very combative or he just didn't understand the tests (he also has cerebral palsy and is developmentally around a 2-4 year old level). He only just last month completed a regular hearing test with the help of an AWESOME audiologist. Has your son been to a urologist? Perhaps his bladder is a little smaller than it should be if he has to get up in the middle of the night. Is he going to the toilet just before bed and no drinking at least 1 hour before bedtime? At our son's urologist, he was able to use a hand-held ultrasound in the office to check the size and capacity of the bladder. He then had my son use the toilet and he used the ultrasound again to check whether or not the bladder was being drained completely. Again welcome and I hope you find your time here as enjoyable as I do. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Louise, Welcome to the CHARGE list. Besides the genetic test (not all kids are testing positive for theCHD7 mutation), some other things I wonder about are: Have they had a good look in his eyes for colobomas? Has he had any imaging of his nose, etc for choanal stenosis, etc? Does his nose seem to run a lot? What do his external ears look like? You may want to confer with someone from the US who is really familiar with CHARGE. Heart, esophagus, intestines are common problems with CHARGE, but also with many other syndromes, I'm wondering why the geneticist in England mentioned CHARGE - some of the things I mentioned above are kind of clinical " red flags " for CHARGE, that's why I mentioned them - those are things not commonly seen in many other syndromes. It sounds like he has something going on for sure; I'm glad they're doing the testing; however, a negative test for the CHD7 does not automatically preclude him from having CHARGE (according to the literature), they believe that more genetic findings will come about in the years to come regarding unravelling the mystery of the etiology of CHARGE. I would have his ears, nose & eyes examined thoroughly by someone familiar with CHARGE (ENT, Ophthamology). Sometimes the child needs to be sedated for the ophthamologist to have a good look in his eyes for the coloboma as some (like my daughters) are back on the optic nerve, not on the iris, which is sometimes visual to the human eye. Also, does Luke " look like " other kids with CHARGE? They have some commonalities in their looks, just like kids with other syndromes, who tend to look similar (not that that means anything definitive, it just may interest you to look). Check the CHARGE picture page link at the end of any of these email messages. Good luck with your venture, Louise, keep us posted and ask as many questions as you like! Hugs from Canada, Mom to Kennedy 8 (CHARGE), 17, 15, and wife to Graeme New Brunswick, Canada http://www.chargesyndrome.info > > Hi to you all, > > Some background - > My son, Luke, was born in June 2000. He was born with several > problems which meant a 2.5 month stay in hospital. He had a few > operations during this time - heart, oesphagus and intestines. As he > got older we were told that his low muscle tone and the fact that he > was meeting non of his milestones was due to his initial problems at > birth. He didn't walk on his own until 27 months. He was diagnosed > with developmental and speech delays and were given OT and ST. But I > have always thought that something else was behind all this. Since > attending Kindergarten we have noticed more challenging behaviour and > he has difficulty staying in one place to actually do any learning. > > This summer we decided enough was enough and we have paid to have > formal testing done. We are English couple who are living in Germany. > Due to his learning difficulties it has been impossible to teach him > German. Our pedeatrician is good but has always said wait and see and > he will catch up. Any formal testing here in Germany would have to be > done in German and so is pointless. We travelled back to England and > saw Dr Benton (neurologist) at Great Ormond Street. We have also had > testing done by OT, ST and an Educational psychologist. They have all > been very helpful and given us loads of information to read and to > help in preschool. We were also directed to a geneticist. It is he > who has suggested that Luke has Charge Syndrome and he has sent away > bloodwork for official diagnosis. I had orginally ruled this out > myself as he can see and hear. Is there anyone on this list who's > children are also like this? > > We have had an eye test done recently but Luke was not really willing > to participate and so we may have to do a test under anasthestic. Has > anyone else had to do this? We have had a BERA test done and he can > hear but is not willing to participate in " normal " hearing tests. > > I am glad that I found such a site and that are so many parents > willing to help each other. My main concerns at the moment are his > schooling and his toileting. > > He is attending a private international school - as this is the only > place that speaks ENglish as a main lanaguage. I therefore have to > coordinate and provide a lot of material for the teachers so that > they can help him. He has a " helper " in the classroom provided by a > charity but is not special needs trained. > > He has been toilet trained for a while now but still has accidents. > He just seems not to realise when he needs to go. He also wets the > bed everu night UNLESS my husband takes him to the toilet at around > midnight. If we don't prompt to go to the toilet he would't go by > himself. On the positive side he has learnt to do the toilet routine > on his own - after prompted to go. Does any one have any ideas why my > son is like this? Any ideas how to help him be more independent?? > > Sorry this is long but I have so many questions - that have not been > answered successfully by his Dr's here in Germany. > > Thanks > > Louise (Mum to Luke (6yrs) and Jack (7months)) > > > -- " It is far better to grasp the universe as it really is than to persist in delusion, however satisfying and reassuring. " --Carl Sagan Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Hello Louise, I read some replies to this and have to agree that Luke probably needs to have his eyes dilated to see behind the eye to detect if he does or does not have colobomas. Not to mention, I don't think he would necessarily have to have vision and/or hearing problema to have charge syndrome. The acronym CHARGE doesn't totally define charge syndrome. Hope to talk to you soon. Chrystal mother to Arleigh, Chrystine (10 months CHaRGE) and 32 weeks pregnant Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Louise- Another welcome to the list! I agree with what the others have said. It would require a sedated vision exam to be sure if Luke's eyes are ok. My daughter is 8 yrs old and just now is able to cooperate with an eye exam so that she doesn't need anesthesia for it. Similar situation with hearing. She was about 3 yrs before she could cooperate well with the testing. Even now, she is always improving in her ability to be aware of her own hearing and vision and communicate that awareness to us. It's quite possible that Luke is seeing and hearing enough to manage but truly has some impairment there. My daughter had very knowledgeable specialists working with her from birth and still she didn't get fitted with hearing aides til age 3 because we just couldn't figure out what she was and wasn't hearing. She has pretty decent hearing in that laypersons think " She hears ok! " But in reality, her hearing loss interferes with speech, spelling, following conversations, etc. Same with vision. She has near normal vision in one eye so an outsider thinks she can see pretty well. They think she runs into doors and stuff cuz she's clumsy or has poor motor skills (which is true) but the vision has a huge impact on her abilities in the classroom and with mobility. I guess I'm trying to say that relatively minor impairments can be hard to identify but can have huge impact. With the complexity of our kids, it's sometimes difficult to sort out the cause of any one thing. There are usually many factors at play. There are other families on the list from England. Perhaps they can direct you to the specialists that have been most helpful to them. I hope you sort out what is going on with Luke and find the support you need to best encourage his development. Michele W mom to Aubrie 8 yrs CHaRgE and 14 yrs, wife to DJ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Louise- Have you reviewed the CHARGE manual on the website? It sounds like you're pretty knowledgeable about CHARGE - especially for a person who doesn't know if it really applies to them :-) Don't have any guilt about not knowing or doing. If you find out there are vision or hearing issues that have been undiagnosed, just know that you have done the best you could with the information and resources available. Forgive yourself, and move on. One of the list moms, Yuka, always says " It is what it is. " Agonizing over wishing it could be different than it is doesn't help anything. I think it does take a thorough exam by a knowledgeable dr to find colobomas. And, no, you wouldn't have figured out vision problems or hearing problems just by his behavior - not with all the other stuff impacting his behavior. It has taken me 8 yrs to understand the full impact of Aubrie's vision and hearing deficits - and I'm sure there's more understanding to come. We're all unraveling this CHARGE mystery together. Each of our kids is different and so we each have to sort out all of the variables for our own kid. We compare and contrast our kids as a means to helping sort out our own. Aubrie also is still wet at night. She's very competent with potty-ing during the day. But she still wears a pull-up at night and it's full each morning. She wants to be dry at night, but she also sleeps too soundly to wake and go. We have our first neurology appt next week to check into attention and focus issues (plus I think neurology can be related to sleep apnea, bedwetting, etc) and next month she will have a sleep study to see if there's anything going on that interferes with night dryness. Meg Hefner, one of our CHARGE specialists, may be able to look at a photo of Luke's face and ears and tell you a bit more about the likelihood of his having CHARGE. She's seen so many kids around the world that she's quite good at identifying " the look " of CHARGE. Michele W Aubrie's mom Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Okay, making a little more sense to me now why the doc said CHARGE to you. Sounds like there might be some choanal stenosis (narrowing of nasal passages at the back of the nose which lead to the throat, etc), and possibly a characteristic CHARGE ear. With the " eye not fully retracting " - that may mean he has facial palsy, again common in CHARGE. When you asked about : *If the Colomba is at the back of the eye what would the effects be? Would I be able to tell from his movement or motor skills?* My daughter has two blind spots, two strips just off to each side of her as a result of her bilateral optic nerve colobomas. Regarding the movement or motor skills - one of the more common features of CHARGE is a malformation or " missing parts " of the inner ear, such as the semi-circular canals, which is the part of the inner ear that gives us balance. My daughter has an absence of semi-circular canals, and as a result, appears clumsy or " drunk " (especially if she is tired) - she is extremely cautious, and sometimes still likes to hold hands on stairs, etc or in a new environment. There are many factors, which on their own, may seem insignificant, but when you LUMP them all together as in CHARGE (vision - blind spots, hearing - some level of hearing loss, even small, balance issues, etc), it makes most simple-to-us tasks very complex and tiring for an individual living with CHARGE. With the toileting, bed wetting, my daughter is 8 1/2 and still wears a pull up at night even though she is trained fully in the day time. There are cranial nerve problems with CHARGE, again which may seem small but coupled with everything else that CHARGE entails, it's big. Common problems may include issues with swallowing, tongue/palate movement, movement of food down the GI tract (reflux is very common, esp. when they're very young). It might not be behavioural for him for sure. I hope I'm not overwhelming you with info here! Hugs from Canada, Mom to Kennedy 8 (CHARGE), 17, 15, and wife to Graeme New Brunswick, Canada http://www.chargesyndrome.info > > Dear all, > > Thanks everyone for the prompt reponse's. I think I will have to go back > and > ask some more questions of our doctors. I have probably been a bit naive > in > that I thought some of his problems were due to clumsiness or lack of > wanting > to do something. I feel really bad if there has been an underlying problem > > with his eye or ears that has led to making things more difficult. But I > will > have to get over that and just go back to the DR's and get all the answers > we > need. > > I live in Darmstadt (just south of furt) in Germany. We only had ST, > OT > and cognitive appraisals done in England as Luke only speaks English. All > other DR's appointments are done here in Germany so that our insurance > will > actually pay for them. Is there anyone on the list that lives in Germany > and > have experience of Dr's here?? > > I will ask our eye doctor about the colomba. I thought he would have been > able to see this with a normal eye exam but from the sounds of some of > your > replies this might not be the case. If the Colomba is at the back of the > eye > what would the effects be? Would I be able to tell from his movement or > motor > skills? > > As for his nose, I think we will have to get this checked. When he has a > cold there is always one nostril that runs. I think he has poor clearance > in the > other nostril. He can breath through this nostril but it my have a > stenosis > there. He snores and breathes through his mouth at night-time. > > The geneticist remarked that he had some of the Charge features - ears > stick > out and his eyes are a bit wider set than normal. And one of the eyelids > on > one eye doesn't fully retract. I'll try and upload a picture so you take a > > look at my beautiful boy. > > We haven't seen an urologist yet. I just thought it was a behaviour issue > - > in that he didn't want to take the time to out to go to the toilet. With > regards at nighttime, he goes to the toilet direct before he gets into bed > and it > doesn't seem to make a difference what he drank or how much before > bedtime. > He sleeps so deeply that he never wakes up to go to the toilet or even if > he > wets himself. We only find out in the morning. > > I guess I have a few more appointments to make. > > Thanks > Louise > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 25, 2006 Report Share Posted August 25, 2006 Hi Louise, I'm just jumping in on the coloboma part. As others have said, the coloboma can be visible from the outside (on the colored part of the eye, or an iris coloboma) or it can be on the inside, either a retinal or optic nerve coloboma. Retinal colobomas can be quite large and have a significant impact on vision (the upper half of the side vision is affected; central vision is too if the coloboma involves the macula, or part of the retina used for fine, detailed vision). The optic nerve colobomas can be more subtle, and the only affect on vision would be an increase in size of the " blind spot " (everybody has these). Were Luke's eyes dilated at his eye exam? Speaking from experience (I'm an optometrist), even with dilated pupils if your patient is uncooperative a small optic nerve coloboma could be missed. My son is 13 months old, and has a small optic nerve coloboma on one side. His vision seems to be fine--he reached out and pulled out a single strand of my hair one day. You have to have decent vision and depth perception to do that! While these things are not tests specific to a coloboma by any means (and are not a substitue for an eye exam!), there are a couple things you can check at home to get a gross idea of whether the level of vision between his two eyes is the same. One is when he is watching TV try covering one eye at a time with your hand and watch his reaction. If he doesn't really care if you cover one side and throws a fit when you cover the other, then that tells you the side he gets upset about is a better seeing eye (If he gets mad on both sides, it doesn't really tell you anything). Also, if you have some close up pictures of him with camera " red eye, " take a look at the eyes. Does the red eye look the same on both sides, or is it different? The red that you see (called the " red reflex " ) is actually a reflection of the light off the retina. A difference in brightness or color of the reflex can mean several things--the eyes aren't aligned, a difference in the glasses prescription, or something going on with the health of the eye. In looking at pictures of several kiddos with CHARGE who I know have colobomas, I can see a definate difference in their camera " red eyes. " I hope I have been of some help (and not just confusing). As others have said, testing negative for the CHARGE gene does not mean he doesn't have it. The diagnosis is made on clinical features, and a good list of them is on the CHARGE foundation web site. (mom to Evan, 13 months) Michele Westmaas wrote: Louise- Have you reviewed the CHARGE manual on the website? It sounds like you're pretty knowledgeable about CHARGE - especially for a person who doesn't know if it really applies to them :-) Don't have any guilt about not knowing or doing. If you find out there are vision or hearing issues that have been undiagnosed, just know that you have done the best you could with the information and resources available. Forgive yourself, and move on. One of the list moms, Yuka, always says " It is what it is. " Agonizing over wishing it could be different than it is doesn't help anything. I think it does take a thorough exam by a knowledgeable dr to find colobomas. And, no, you wouldn't have figured out vision problems or hearing problems just by his behavior - not with all the other stuff impacting his behavior. It has taken me 8 yrs to understand the full impact of Aubrie's vision and hearing deficits - and I'm sure there's more understanding to come. We're all unraveling this CHARGE mystery together. Each of our kids is different and so we each have to sort out all of the variables for our own kid. We compare and contrast our kids as a means to helping sort out our own. Aubrie also is still wet at night. She's very competent with potty-ing during the day. But she still wears a pull-up at night and it's full each morning. She wants to be dry at night, but she also sleeps too soundly to wake and go. We have our first neurology appt next week to check into attention and focus issues (plus I think neurology can be related to sleep apnea, bedwetting, etc) and next month she will have a sleep study to see if there's anything going on that interferes with night dryness. Meg Hefner, one of our CHARGE specialists, may be able to look at a photo of Luke's face and ears and tell you a bit more about the likelihood of his having CHARGE. She's seen so many kids around the world that she's quite good at identifying " the look " of CHARGE. Michele W Aubrie's mom Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 Hi Louise, Luke sounds very similar to my daughter , who is 5 next month. She was only diagnosed with CHARGE after I did alot of pushing, they didn't think that she had CHARGE because she didn't " look " like a child with charge. She has bilateral coloboma of the optic disc which causes blind spots, but we had a formal test done last week and her vision is very good and the blind spots are at the top half of her eyes. She is completely deaf in one ear, but her other ear is normal and you only need one good hearing ear to learn speech, (however, she has no directional hearing and her semicircular canals are also not formed properly, so her balance is really bad), she has ears that stick out and look charge-like to me, but no one else seems to think so (except charge parents). We were also told that her low muscle tone was because of her spending many months in hospital (which is actually rubbish, because lots of kids spend lots of time in hospital and it doesn't make them floppy!) Her gross motor skills were very delayed and if she hadn't acually been diagnosed it would have been alot harder to understand why. Another way to see the coloboma is in a photograph - the flash causes a reflective mirror like " white eye " instead of the red eye that you can get in some shots. Normal eyes dont have this " white eye " reflection, it is caused by the coloboma at the optic disc. also only sits on the potty when I put her there, and is still in pullups. She is starting to " get it " , but only sits on a potty, she doesn't like to sit on anything that takes her feet off the floor because of balance. It also has to do with muscle tone, if you have low muscle tone it is hard to feel the sensation of needing the toilet until it's urgent or too late. Luke is only 6, maybe keep going with the toiletting during the day, but put a dry- nite (pullup) on him at night for a while and don't worry about it. There are lots of kids with no medical/behavour issues that wet the bed until they are 12 or so (myself included), it will just sort itself out when he is ready. Day time is hard, I put a pull up on for wee accidents, she doesn't poo in it, she tells me that it is " knocking " (cute hey?) and then we go sit on the potty. All these things have a huge impact on their confidence and confidence has a huge impact on their behaviour. Anyway, have a look at on her website and let us know how you are going. in Australia http://begasfamily.blogspot.com/ > > Hi to you all, > > Some background - > My son, Luke, was born in June 2000. He was born with several > problems which meant a 2.5 month stay in hospital. He had a few > operations during this time - heart, oesphagus and intestines. As he > got older we were told that his low muscle tone and the fact that he > was meeting non of his milestones was due to his initial problems at > birth. He didn't walk on his own until 27 months. He was diagnosed > with developmental and speech delays and were given OT and ST. But I > have always thought that something else was behind all this. Since > attending Kindergarten we have noticed more challenging behaviour and > he has difficulty staying in one place to actually do any learning. > > This summer we decided enough was enough and we have paid to have > formal testing done. We are English couple who are living in Germany. > Due to his learning difficulties it has been impossible to teach him > German. Our pedeatrician is good but has always said wait and see and > he will catch up. Any formal testing here in Germany would have to be > done in German and so is pointless. We travelled back to England and > saw Dr Benton (neurologist) at Great Ormond Street. We have also had > testing done by OT, ST and an Educational psychologist. They have all > been very helpful and given us loads of information to read and to > help in preschool. We were also directed to a geneticist. It is he > who has suggested that Luke has Charge Syndrome and he has sent away > bloodwork for official diagnosis. I had orginally ruled this out > myself as he can see and hear. Is there anyone on this list who's > children are also like this? > > We have had an eye test done recently but Luke was not really willing > to participate and so we may have to do a test under anasthestic. Has > anyone else had to do this? We have had a BERA test done and he can > hear but is not willing to participate in " normal " hearing tests. > > I am glad that I found such a site and that are so many parents > willing to help each other. My main concerns at the moment are his > schooling and his toileting. > > He is attending a private international school - as this is the only > place that speaks ENglish as a main lanaguage. I therefore have to > coordinate and provide a lot of material for the teachers so that > they can help him. He has a " helper " in the classroom provided by a > charity but is not special needs trained. > > He has been toilet trained for a while now but still has accidents. > He just seems not to realise when he needs to go. He also wets the > bed everu night UNLESS my husband takes him to the toilet at around > midnight. If we don't prompt to go to the toilet he would't go by > himself. On the positive side he has learnt to do the toilet routine > on his own - after prompted to go. Does any one have any ideas why my > son is like this? Any ideas how to help him be more independent?? > > Sorry this is long but I have so many questions - that have not been > answered successfully by his Dr's here in Germany. > > Thanks > > Louise (Mum to Luke (6yrs) and Jack (7months)) > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 yeah the balance issues mean hearing to me im abit like that to lol better as i got older but still quiete pour balance > > Hi Louise, > Luke sounds very similar to my daughter , who is 5 next > month. She was only diagnosed with CHARGE after I did alot of > pushing, they didn't think that she had CHARGE because she > didn't " look " like a child with charge. She has bilateral coloboma > of the optic disc which causes blind spots, but we had a formal test > done last week and her vision is very good and the blind spots are > at the top half of her eyes. She is completely deaf in one ear, but > her other ear is normal and you only need one good hearing ear to > learn speech, (however, she has no directional hearing and her > semicircular canals are also not formed properly, so her balance is > really bad), she has ears that stick out and look charge-like to me, > but no one else seems to think so (except charge parents). We were > also told that her low muscle tone was because of her spending many > months in hospital (which is actually rubbish, because lots of kids > spend lots of time in hospital and it doesn't make them floppy!) Her > gross motor skills were very delayed and if she hadn't acually been > diagnosed it would have been alot harder to understand why. > Another way to see the coloboma is in a photograph - the flash > causes a reflective mirror like " white eye " instead of the red eye > that you can get in some shots. Normal eyes dont have this " white > eye " reflection, it is caused by the coloboma at the optic disc. > also only sits on the potty when I put her there, and is > still in pullups. She is starting to " get it " , but only sits on a > potty, she doesn't like to sit on anything that takes her feet off > the floor because of balance. It also has to do with muscle tone, > if you have low muscle tone it is hard to feel the sensation of > needing the toilet until it's urgent or too late. Luke is only 6, > maybe keep going with the toiletting during the day, but put a dry- > nite (pullup) on him at night for a while and don't worry about it. > There are lots of kids with no medical/behavour issues that wet the > bed until they are 12 or so (myself included), it will just sort > itself out when he is ready. Day time is hard, I put a pull up on > for wee accidents, she doesn't poo in it, she tells me > that it is " knocking " (cute hey?) and then we go sit on the potty. > All these things have a huge impact on their confidence and > confidence has a huge impact on their behaviour. > Anyway, have a look at on her website and let us know how > you are going. > in Australia > http://begasfamily.blogspot.com/ > > > > > > > Hi to you all, > > > > Some background - > > My son, Luke, was born in June 2000. He was born with several > > problems which meant a 2.5 month stay in hospital. He had a few > > operations during this time - heart, oesphagus and intestines. As > he > > got older we were told that his low muscle tone and the fact that > he > > was meeting non of his milestones was due to his initial problems > at > > birth. He didn't walk on his own until 27 months. He was diagnosed > > with developmental and speech delays and were given OT and ST. But > I > > have always thought that something else was behind all this. Since > > attending Kindergarten we have noticed more challenging behaviour > and > > he has difficulty staying in one place to actually do any > learning. > > > > This summer we decided enough was enough and we have paid to have > > formal testing done. We are English couple who are living in > Germany. > > Due to his learning difficulties it has been impossible to teach > him > > German. Our pedeatrician is good but has always said wait and see > and > > he will catch up. Any formal testing here in Germany would have to > be > > done in German and so is pointless. We travelled back to England > and > > saw Dr Benton (neurologist) at Great Ormond Street. We have also > had > > testing done by OT, ST and an Educational psychologist. They have > all > > been very helpful and given us loads of information to read and to > > help in preschool. We were also directed to a geneticist. It is he > > who has suggested that Luke has Charge Syndrome and he has sent > away > > bloodwork for official diagnosis. I had orginally ruled this out > > myself as he can see and hear. Is there anyone on this list who's > > children are also like this? > > > > We have had an eye test done recently but Luke was not really > willing > > to participate and so we may have to do a test under anasthestic. > Has > > anyone else had to do this? We have had a BERA test done and he > can > > hear but is not willing to participate in " normal " hearing tests. > > > > I am glad that I found such a site and that are so many parents > > willing to help each other. My main concerns at the moment are his > > schooling and his toileting. > > > > He is attending a private international school - as this is the > only > > place that speaks ENglish as a main lanaguage. I therefore have to > > coordinate and provide a lot of material for the teachers so that > > they can help him. He has a " helper " in the classroom provided by > a > > charity but is not special needs trained. > > > > He has been toilet trained for a while now but still has > accidents. > > He just seems not to realise when he needs to go. He also wets the > > bed everu night UNLESS my husband takes him to the toilet at > around > > midnight. If we don't prompt to go to the toilet he would't go by > > himself. On the positive side he has learnt to do the toilet > routine > > on his own - after prompted to go. Does any one have any ideas why > my > > son is like this? Any ideas how to help him be more independent?? > > > > Sorry this is long but I have so many questions - that have not > been > > answered successfully by his Dr's here in Germany. > > > > Thanks > > > > Louise (Mum to Luke (6yrs) and Jack (7months)) > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 - I finally took the time to look at 's site. She is gorgeous!!! Did you take all those photos? They are outstanding! Michele W mom to Aubrie 8 yrs CHaRgE and 14 yrs, wife to DJ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 Hi Michele, Thanks, I think she is gorgeous and I love taking photos of her, she is very photogenic. Michele, I actually wanted to ask you about Aubrie's photo, I see she does karate from the photo in the stars (I love that photo), does she still do it and does she enjoy it and did it help her balance? Sorry so many questions, but I was thinking of starting , but wanted to get some advise first. Thanks > > - > > I finally took the time to look at 's site. She is gorgeous!!! > Did you take all those photos? They are outstanding! > > > > Michele W > mom to Aubrie 8 yrs CHaRgE and 14 yrs, wife to DJ > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 - We think karate (or any martial arts) is the best thing! It helps with balance, focus, proprioception (awareness of body in space), control, " inner harmony " , etc. Aubrie took dance before switching to karate. I see a huge difference in the benefits. Plus, in karate, there's no one to " compete " against but yourself. And, at least in our group, there is a big deal about how everyone is contributing and is of equal worth. Our instructor doesn't tolerate any disrespect for each other. When sparring, the kids are paired and expected to be pleased and ready to face all partners. I was talking with Aubrie's PT yesterday because the new PE teacher was looking for guidance on activity. She suggested the martial arts for all those reasons as well. Plus, if you don't spar, it's not a contact sport. I know Flo and Simon are both into karate, Chip is or has taken, and there may be others. Hopefully, they can tell you more. Short answer is we love it and it's the one thing we will try to maintain. Our instructor travels to our rural community to teach so gas prices may be forcing her to go to 1 day/wk instead of 2. Oh - and Aubrie loves it! She's gonna rid the world of bullies and meanies with her karate! Another benefit is the confidence and security of knowing that you can (or you think you can) manage yourself when in danger. Michele W Aubrie's mom _____ From: CHARGE [mailto:CHARGE ] On Behalf Of Begas Sent: Saturday, August 26, 2006 1:31 AM To: CHARGE Subject: Re: Trying to get a diagnosis Hi Michele, Thanks, I think she is gorgeous and I love taking photos of her, she is very photogenic. Michele, I actually wanted to ask you about Aubrie's photo, I see she does karate from the photo in the stars (I love that photo), does she still do it and does she enjoy it and did it help her balance? Sorry so many questions, but I was thinking of starting , but wanted to get some advise first. Thanks > > - > > I finally took the time to look at 's site. She is gorgeous!!! > Did you take all those photos? They are outstanding! > > > > Michele W > mom to Aubrie 8 yrs CHaRgE and 14 yrs, wife to DJ > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 Thanks Michele, Well, Steph turns 5 next month and they have to be 5 before they start martial arts. I'm sure that she will enjoy it, thanks so much for the advice. It's good to know that it has made a big difference. Steph is not keen on any physical contact with other kids (just because they accidentally knock her over), so it is probably perfect for her. thanks again > > > > - > > > > I finally took the time to look at 's site. She is > gorgeous!!! > > Did you take all those photos? They are outstanding! > > > > > > > > Michele W > > mom to Aubrie 8 yrs CHaRgE and 14 yrs, wife to DJ > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 > > > > - > > > > I finally took the time to look at 's site. She is > gorgeous!!! > > Did you take all those photos? They are outstanding! > > > > > > > > Michele W > > mom to Aubrie 8 yrs CHaRgE and 14 yrs, wife to DJ > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2006 Report Share Posted August 26, 2006 Hi Louise and Family Welcome to this listserve, Amelie our 4th daughter has charge 20 months old, we live in Manchester (UK)tested positive to CHD7 mutation, she has bilateral colobomas optic nerve, profound hearing loss bilateral, PDA ligation, ASD awaiting, Hypertrophic cardiomyopathy. chronic lung disease oxygen 2litres per min dependent, aspiration risk, slight facial palsy right side, nissen fundoplication (failed awaiting surgery anytime soon) GJ mic-key, severe hypotonia, lieing down only, like most charge children some life and death scary moments, and grey hairs!! but still here and and an absolute joy. Best place in the world is to be here on this listserv!! most things get answered by those who know best!! wish you all the best in getting a diagnosis. hugs Lesley x > > Hi to you all, > > Some background - > My son, Luke, was born in June 2000. He was born with several > problems which meant a 2.5 month stay in hospital. He had a few > operations during this time - heart, oesphagus and intestines. As he > got older we were told that his low muscle tone and the fact that he > was meeting non of his milestones was due to his initial problems at > birth. He didn't walk on his own until 27 months. He was diagnosed > with developmental and speech delays and were given OT and ST. But I > have always thought that something else was behind all this. Since > attending Kindergarten we have noticed more challenging behaviour and > he has difficulty staying in one place to actually do any learning. > > This summer we decided enough was enough and we have paid to have > formal testing done. We are English couple who are living in Germany. > Due to his learning difficulties it has been impossible to teach him > German. Our pedeatrician is good but has always said wait and see and > he will catch up. Any formal testing here in Germany would have to be > done in German and so is pointless. We travelled back to England and > saw Dr Benton (neurologist) at Great Ormond Street. We have also had > testing done by OT, ST and an Educational psychologist. They have all > been very helpful and given us loads of information to read and to > help in preschool. We were also directed to a geneticist. It is he > who has suggested that Luke has Charge Syndrome and he has sent away > bloodwork for official diagnosis. I had orginally ruled this out > myself as he can see and hear. Is there anyone on this list who's > children are also like this? > > We have had an eye test done recently but Luke was not really willing > to participate and so we may have to do a test under anasthestic. Has > anyone else had to do this? We have had a BERA test done and he can > hear but is not willing to participate in " normal " hearing tests. > > I am glad that I found such a site and that are so many parents > willing to help each other. My main concerns at the moment are his > schooling and his toileting. > > He is attending a private international school - as this is the only > place that speaks ENglish as a main lanaguage. I therefore have to > coordinate and provide a lot of material for the teachers so that > they can help him. He has a " helper " in the classroom provided by a > charity but is not special needs trained. > > He has been toilet trained for a while now but still has accidents. > He just seems not to realise when he needs to go. He also wets the > bed everu night UNLESS my husband takes him to the toilet at around > midnight. If we don't prompt to go to the toilet he would't go by > himself. On the positive side he has learnt to do the toilet routine > on his own - after prompted to go. Does any one have any ideas why my > son is like this? Any ideas how to help him be more independent?? > > Sorry this is long but I have so many questions - that have not been > answered successfully by his Dr's here in Germany. > > Thanks > > Louise (Mum to Luke (6yrs) and Jack (7months)) > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 27, 2006 Report Share Posted August 27, 2006 Lesley- I'm glad to have given you a smile. Someday, Amelie will do things to amaze and delight you. Michele W Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 27, 2006 Report Share Posted August 27, 2006 Hi all, I don't write often but i try to read as often as possible. Just wanted to address the toliet issue. Tyler (now 8) didn't really start consistency until he was 6.5. He still occassionally has accidents, but oddly has never wet the bed. It just really took him a long time. But there is hope. He still seems not to totally get that he has to go and needs to start and then RUN to the bathroom. He also doesn't like to admit that he has gone. Good luck to you. I know that it can be a real challenge. Once you let it go, it seems to get easier. If this is the only problem my child had, I'd feel pretty thankful. Don't you agree? Best wishes to all. You all do such a nice job communicating on here. Some day I'll tell you Tyler's story. Life does get better. Just remember how wonderful their spirit is when you are washing sheets or peed in clothes. It helps!! Kim Menne (mom of Raychel (9), Tyler (Charge-8) and (2) > > > > Hi to you all, > > > > Some background - > > My son, Luke, was born in June 2000. He was born with several > > problems which meant a 2.5 month stay in hospital. He had a few > > operations during this time - heart, oesphagus and intestines. As > he > > got older we were told that his low muscle tone and the fact that > he > > was meeting non of his milestones was due to his initial problems > at > > birth. He didn't walk on his own until 27 months. He was diagnosed > > with developmental and speech delays and were given OT and ST. But > I > > have always thought that something else was behind all this. Since > > attending Kindergarten we have noticed more challenging behaviour > and > > he has difficulty staying in one place to actually do any > learning. > > > > This summer we decided enough was enough and we have paid to have > > formal testing done. We are English couple who are living in > Germany. > > Due to his learning difficulties it has been impossible to teach > him > > German. Our pedeatrician is good but has always said wait and see > and > > he will catch up. Any formal testing here in Germany would have to > be > > done in German and so is pointless. We travelled back to England > and > > saw Dr Benton (neurologist) at Great Ormond Street. We have also > had > > testing done by OT, ST and an Educational psychologist. They have > all > > been very helpful and given us loads of information to read and to > > help in preschool. We were also directed to a geneticist. It is he > > who has suggested that Luke has Charge Syndrome and he has sent > away > > bloodwork for official diagnosis. I had orginally ruled this out > > myself as he can see and hear. Is there anyone on this list who's > > children are also like this? > > > > We have had an eye test done recently but Luke was not really > willing > > to participate and so we may have to do a test under anasthestic. > Has > > anyone else had to do this? We have had a BERA test done and he > can > > hear but is not willing to participate in " normal " hearing tests. > > > > I am glad that I found such a site and that are so many parents > > willing to help each other. My main concerns at the moment are his > > schooling and his toileting. > > > > He is attending a private international school - as this is the > only > > place that speaks ENglish as a main lanaguage. I therefore have to > > coordinate and provide a lot of material for the teachers so that > > they can help him. He has a " helper " in the classroom provided by > a > > charity but is not special needs trained. > > > > He has been toilet trained for a while now but still has > accidents. > > He just seems not to realise when he needs to go. He also wets the > > bed everu night UNLESS my husband takes him to the toilet at > around > > midnight. If we don't prompt to go to the toilet he would't go by > > himself. On the positive side he has learnt to do the toilet > routine > > on his own - after prompted to go. Does any one have any ideas why > my > > son is like this? Any ideas how to help him be more independent?? > > > > Sorry this is long but I have so many questions - that have not > been > > answered successfully by his Dr's here in Germany. > > > > Thanks > > > > Louise (Mum to Luke (6yrs) and Jack (7months)) > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 27, 2006 Report Share Posted August 27, 2006 ange bout the karate thing my best friend sevies brother is about stephs ange and started this year so think u can start at any age tholugh think if u were gonna put her in now ud need to do it to coz sevies mum does it with her brother but that could b coz she likes it her self LOL > > Hi all, > I don't write often but i try to read as often as possible. Just wanted to > address the toliet > issue. Tyler (now 8) didn't really start consistency until he was 6.5. He > still occassionally > has accidents, but oddly has never wet the bed. It just really took him a > long time. But > there is hope. He still seems not to totally get that he has to go and > needs to start and > then RUN to the bathroom. He also doesn't like to admit that he has gone. > Good luck to > you. I know that it can be a real challenge. Once you let it go, it seems > to get easier. If > this is the only problem my child had, I'd feel pretty thankful. Don't you > agree? Best > wishes to all. You all do such a nice job communicating on here. Some day > I'll tell you > Tyler's story. Life does get better. Just remember how wonderful their > spirit is when you > are washing sheets or peed in clothes. It helps!! > > Kim Menne (mom of Raychel (9), Tyler (Charge-8) and (2) > > > > > > > > > Hi to you all, > > > > > > Some background - > > > My son, Luke, was born in June 2000. He was born with several > > > problems which meant a 2.5 month stay in hospital. He had a few > > > operations during this time - heart, oesphagus and intestines. As > > he > > > got older we were told that his low muscle tone and the fact that > > he > > > was meeting non of his milestones was due to his initial problems > > at > > > birth. He didn't walk on his own until 27 months. He was diagnosed > > > with developmental and speech delays and were given OT and ST. But > > I > > > have always thought that something else was behind all this. Since > > > attending Kindergarten we have noticed more challenging behaviour > > and > > > he has difficulty staying in one place to actually do any > > learning. > > > > > > This summer we decided enough was enough and we have paid to have > > > formal testing done. We are English couple who are living in > > Germany. > > > Due to his learning difficulties it has been impossible to teach > > him > > > German. Our pedeatrician is good but has always said wait and see > > and > > > he will catch up. Any formal testing here in Germany would have to > > be > > > done in German and so is pointless. We travelled back to England > > and > > > saw Dr Benton (neurologist) at Great Ormond Street. We have also > > had > > > testing done by OT, ST and an Educational psychologist. They have > > all > > > been very helpful and given us loads of information to read and to > > > help in preschool. We were also directed to a geneticist. It is he > > > who has suggested that Luke has Charge Syndrome and he has sent > > away > > > bloodwork for official diagnosis. I had orginally ruled this out > > > myself as he can see and hear. Is there anyone on this list who's > > > children are also like this? > > > > > > We have had an eye test done recently but Luke was not really > > willing > > > to participate and so we may have to do a test under anasthestic. > > Has > > > anyone else had to do this? We have had a BERA test done and he > > can > > > hear but is not willing to participate in " normal " hearing tests. > > > > > > I am glad that I found such a site and that are so many parents > > > willing to help each other. My main concerns at the moment are his > > > schooling and his toileting. > > > > > > He is attending a private international school - as this is the > > only > > > place that speaks ENglish as a main lanaguage. I therefore have to > > > coordinate and provide a lot of material for the teachers so that > > > they can help him. He has a " helper " in the classroom provided by > > a > > > charity but is not special needs trained. > > > > > > He has been toilet trained for a while now but still has > > accidents. > > > He just seems not to realise when he needs to go. He also wets the > > > bed everu night UNLESS my husband takes him to the toilet at > > around > > > midnight. If we don't prompt to go to the toilet he would't go by > > > himself. On the positive side he has learnt to do the toilet > > routine > > > on his own - after prompted to go. Does any one have any ideas why > > my > > > son is like this? Any ideas how to help him be more independent?? > > > > > > Sorry this is long but I have so many questions - that have not > > been > > > answered successfully by his Dr's here in Germany. > > > > > > Thanks > > > > > > Louise (Mum to Luke (6yrs) and Jack (7months)) > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.